Canonical Allele Identifier: CA112106270

Linked Data

dbSNP Id: rs944970464

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288543G>A , CM000666.2:g.186288543G>A GRCh38
NC_000004.11:g.187209697G>A , CM000666.1:g.187209697G>A GRCh37
NC_000004.10:g.187446691G>A NCBI36
NG_008051.1:g.27580G>A , LRG_583:g.27580G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1807G>A (F11) MANE Select ENSP00000384957.2:p.Glu603Lys
ENST00000264691.4:c.407G>A (F11)
ENST00000264692.8:c.1645G>A (F11) ENSP00000264692.5:p.Glu549Lys
ENST00000403665.6:c.1807G>A (F11) ENSP00000384957.2:p.Glu603Lys
ENST00000503841.1:n.326G>A (F11)
NM_000128.3:c.1807G>A , LRG_583t1:c.1807G>A (F11) NP_000119.1:p.Glu603Lys
NR_033900.1:n.951C>T (F11-AS1)
XM_005262821.2:c.1810G>A (F11) XP_005262878.1:p.Glu604Lys
XM_005262822.2:c.1714G>A (F11) XP_005262879.1:p.Glu572Lys
XM_005262823.2:c.1540G>A (F11) XP_005262880.1:p.Glu514Lys
XM_006714137.1:c.1762G>A (F11) XP_006714200.1:p.Glu588Lys
XM_005262821.4:c.1810G>A (F11) XP_005262878.1:p.Glu604Lys
XM_005262822.4:c.1714G>A (F11) XP_005262879.1:p.Glu572Lys
XM_005262823.4:c.1540G>A (F11) XP_005262880.1:p.Glu514Lys
XM_006714137.3:c.1762G>A (F11) XP_006714200.1:p.Glu588Lys
NM_000128.4:c.1807G>A (F11) MANE Select NP_000119.1:p.Glu603Lys